Aminoacidopathies

Question 1

Class of inherited errors of metabolism

There is an enzyme defect that inhibit the bodus’s ability to metabolize certain amino acids

Answer 1

Aminoacidopathies

Question 2

Dife the concept of inborn errors of metabolism

Answer 2

1909 Garrod

Question 3

Probable reasons of aminoacidopathies

Answer 3

A. Activity of a specific enzyme in the metabolic pathway

B. membrane transport system for amino acids

Question 4

Aminoacidopathies

Answer 4

1. Phenylketonuria
2. Tyrosinemia
3. Maple syrup Urine disease MSUD
4. Alkaptonuria Black urine disease
5. Cystinuria

Question 5

Phenylalanine hydroxylase (PAH) dificiency

Answer 5

Phenylketonuria (PKU)

Question 6

Catalyzes the conversion of phenylalanine to tyrosine

Answer 6

Phenylalanine hydroxylase

Question 7

Deficiency in the enzymes for regeneration and synthesis of tetrabydrobiopterin (BH4)

Elevated blood levels of phenylalanine and deficient production of neurotransmitters from tyrosine and tryptophan

Answer 7

Hyperphenylalaninemia

Question 8

Cofactor of enzymatic hydroxylation of the aromatic amino acids (phenylalanine, tyrosine, and tryptophan)

Answer 8

BH4

Question 9

Phenylalanine levels

Answer 9

Greater than 1,200 micromol/L

Question 10

New bor.: Upper limit of normal

Answer 10

120micromol/L (2mg/dl)

Question 11

Metabolites of PKU

Answer 11

Blood and urine (musty odor)

Question 12

When PKU is untreated

Answer 12

Very low IQ (below50)

Question 13

Happy hormone

Answer 13

Serotonin

Question 14

Synthesis of serotonin

Answer 14

Tryptophan

Question 15

Defect in myelin formation

Answer 15

Insufficient synthesis of serotonin from tryptophan

Question 16

Pigment synthesized from tyrosinase accumulation of phenylalanine competitively inhibits tyronase and impairs melanin formation

Answer 16

melanin

Question 17

Essential precursor of tyrosine

Answer 17

Phenylalanine

Question 18

How to reduce phenylalanine levels

Answer 18

Increasing the activity of the PAH enzyme
Follow phenylalanin-restricted diet

Question 19

Characterized by the excretion of tyrosine and tyrosine catabolites in urine

Answer 19

Tyrosinemia

Question 20

Most severe form of tyrosinemia
Low levels of the enzyme fumaryl acetoacetate hydrolase (5th enzyme)

Answer 20

Type 1 tyrosinemia

Question 21

Leads to liver and kidney failure, problems affecting the nervous system, and and increase risk of cirrhosis or liver cancer

Answer 21

Type 1 Tyrosinemia

Question 22

Manangement for type 1 Tyrosinemia

Answer 22

1. Nitisone (NTBC)
   BN: Orfadin, Nitryr
   Class: Tyrosine Decredation Inhibitor
2. Low- phenylalanine and tyrosine Diet

Question 23

Aka Richner-Hanhart syndrome
deficiency of tyrosine aminotransferase

Answer 23

Type 2 Tyrosinemia

Question 24

S/Sx of type 2 Tyrosinemia

Answer 24

Mentally retarded
Excessive tearing, photophobia, eye pain, redness, and painful skin lesions on the palms and soles of the feet

Question 25

Manangement of Type 2 Tyrosinemia

Answer 25

1. No cure 2. Diet of tyrosine, phenylalanine, and methionine 3. Keratolytic and emollient for hyperkeratotic skin lesions 4. Oral retinoids for persistent keratoderma

Question 26

Rare disorder Deficient of the enzyme 4-hydroxyphenylpyruvate dioxygenase

Answer 26

Type 3 Tyrosinemia

Question 27

1st FDA approved enzyme substitution therapy as of 2018 Reduce blood Phe levels

Answer 27

Pegvalaise-PQPZ (Palynziq)

Question 28

Magic sugar

Answer 28

Aspartame

Question 29

Management of Type 3 Tyrosinemia

Answer 29

Phenylalanine and tyrosine-restricted diet No treatment

Question 30

Defective enzyme is homogentisate oxidase in tyrosine metabolism

Answer 30

Alkaptonuria

Question 31

Urine in alkaptonuric patient resembles _____

Answer 31

Coke in color

Question 32

Alkapton deposition in connective tissue, bones and various organs

Answer 32

Ochronosis

Question 33

Deposition of pigment alkapton (in joints), produced from homogentisate

Answer 33

Arthritis

Question 34

Management of Alkaptonuria

Answer 34

Medical therapy: ameliorate rate of pigment deposition Ascorbic acid: retard the process of conversion of homogentisate to polymeric material Nitisinone: reduce homogentisic acid excretion

Question 35

Reduced activity of the enzyme branched-chain Ω ketoacid dehydrogenase Blosk the normal metaboyof leucine, isoleucine, and valine

Answer 35

Maple Syrup Urine Disease (MSUD)

Question 36

Degredation of propionyl CoA

Answer 36

Valine

Question 37

Degredation of propionyl CoA and acetyl CoA

Answer 37

Isoleucine

Question 38

Degredation of acetoacetate and acetyl CoA

Answer 38

Leucine

Question 39

Urine odor of a defective alpha-keto acid dehydrogenase

Answer 39

Maple syrup or burnt sugar

Question 40

Ω keto-analogues accumulate in a defective Ω-keto acid dehydrogenase

Answer 40

Ω-ketoisovalerate for valine Ω-keto-§-methylvalerate for isoleucine Ω-ketoisocaproate for leucine (transamination)

Question 41

Characteristics maple syrup or burnt sugar odor

Answer 41

Urine, breath, and skin

Question 42

Essential coenzyme in carbohydrate and amino acid metabolism

Answer 42

Thiamine

Question 43

Management of MSUD Consultation with neonatal/ paediatric nutritionist

Answer 43

Dietary restriction of branched-chain AA

Question 44

Amino acid transport disorder Defective transport of cystine and basic amino acid across renal tubule and the small intestine

Answer 44

Cystinuria

Question 45

Involving the gene that codes for cystine transporter known as SLC3A1

Answer 45

Autosomal-recessive defect

Question 46

Increased concentrations of cystine and basic amino acids. (ornithine, lysine, and arginine)

Answer 46

Urine amino acids

Question 47

Normal in cystinuria

Answer 47

Plasma amino acid

Question 48

Clinical presentation of cystinuria

Answer 48

1. Cystine stones 2. Chronic urinary tract infection 3. Hematuria and dysuria

Question 49

Decrease urinary cystine concentration

Answer 49

Hyperdiuresis

Question 50

Patients should drink every hour

Answer 50

240 ml

Question 51

Patient should drink before bedtime or atleast during the night

Answer 51

480 ml

Question 52

Prevent the precipitation of cystine calculi and even aid in dissolution

Answer 52

Alkaline urine

Question 53

Maintain urinary pH must be maintained at

Answer 53

7-7.5

Question 54

Urinary alkalinizers

Answer 54

Potassium Citrate Acetazolamide

Question 55

Chelating agents which is a manage ment of Cystinuria

Answer 55

Penicillamine Alpha-mercaltopropionylglycine Bucillamine

Question 56

Ability to dissociate the cystine molecule into disulphide moieties with muchh higher solubilities than parent molecule

Answer 56

Cystine-binding and Cystine-reducing agents

Question 57

L-cystine dimethyl esters (L-CDME) and L-cystine methyl esters (L-CME)

Answer 57

Crystal Growth Inhibitors

Question 58

First drug to help manange PKU

Answer 58

Sapropterin dihydrochloride (Kuvan)